ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741966601
Gene: CEP72
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060610.2:p.Arg335Gln
CA3176844
NM_018140.4:c.1004G>A